View genomic variant #0000000274
Chromosome |
11 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
Type |
subst |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.534288C>T |
Published as |
- |
GERP |
3.000 |
Segregation |
- |
DB-ID |
HRAS_000003 |
MSCV |
MSCV_0000274 |
dbSNP ID |
rs104894230 |
Frequency |
- |
Sources |
; |
Reference |
16170316;22499344;16443854;20658932;17412879;18039947;6092966;6330729;17979197;21344638;{PMID:171 |
Variant remarks |
- |
Genetic origin |
- |
Variant_disease |
- |
Average frequency (large NGS studies) |
Variant not found in online data sets |
Owner |
LOVD |
Variant on transcripts
ClinVar @ MSeqDR | RCVaccession | RCV000013431; RCV000013432; RCV000013433; RCV000032850; RCV000157912; RCV000428111; RCV000438340; RCV003415692; RCV003352749; | Chromosome | 11:534288..534288 | ClinVar Allele ID | 27639 | Disease database name and identifier | Human Phenotype Ontology:HP:0100031, MONDO:MONDO:0015074, MeSH:D013964, MedGen:C0040136, Orphanet:100087|Human Phenotype Ontology:HP:0002861, Human Phenotype Ontology:HP:0002887, Human Phenotype Ontology:HP:0006777, Human Phenotype Ontology:HP:0007474, MONDO:MONDO:0005105, MeSH:D008545, MedGen:C0025202|.|MeSH:D030342, MedGen:C0950123|MedGen:C3661900|Human Phenotype Ontology:HP:0010816, MONDO:MONDO:0008093, MedGen:C0334082, OMIM:162900, Orphanet:79414|MONDO:MONDO:0001187, MedGen:C0005684, OMIM:109800, Orphanet:157980|MONDO:MONDO:0800299, MedGen:C1968782|MONDO:MONDO:0009026, MedGen:C0587248, OMIM:218040, Orphanet:3071 | ClinVar preferred disease name | Thyroid tumor|Melanoma|HRAS-related condition|Inborn genetic diseases|not provided|Epidermal nevus|Malignant tumor of urinary bladder|Myopathy, congenital, with excess of muscle spindles|Costello syndrome | HGVS variant names | NC 000011.9:g.534288C>A | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Pathogenic | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA122545|OMIM:190020.0001|UniProtKB:P01112#VAR 006836 | Gene symbol:Gene id. | HRAS:3265|LRRC56:115399 | Molecular consequence | SO:0001583|missense variant, SO:0001623|5 prime UTR variant | Allele origin | | dbSNP ID | 104894230 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000013437; RCV000207503; RCV000417508; RCV000423413; RCV000423622; RCV000418547; RCV000425989; RCV000426130; RCV000422263; RCV000428375; RCV000423741; RCV000425511; RCV000430806; RCV000433266; RCV000428172; RCV000432956; RCV000435619; RCV000435805; RCV000433587; RCV00043; | Chromosome | 11:534288..534288 | ClinVar Allele ID | 27642 | Disease database name and identifier | MONDO:MONDO:0020297, MedGen:C5681679, Orphanet:98733|Human Phenotype Ontology:HP:0100630, MONDO:MONDO:0005375, MeSH:D009303, MedGen:C0027439|MONDO:MONDO:0006046, MedGen:C0279663|Human Phenotype Ontology:HP:0033770, MONDO:MONDO:0005036, MedGen:C0278701|MONDO:MONDO:0006485, MedGen:C0280630|MeSH:C538614, MedGen:C1336078|Human Phenotype Ontology:HP:0032241, MONDO:MONDO:0021230, MeSH:D002583, MedGen:C0007873|MONDO:MONDO:0004971, MeSH:D003528, MedGen:C0010606|MONDO:MONDO:0005082, MedGen:C0007112|MedGen:C0153574|Human Phenotype Ontology:HP:0100031, MONDO:MONDO:0015074, MeSH:D013964, MedGen:C0040136, Orphanet:100087|Human Phenotype Ontology:HP:0100834, MONDO:MONDO:0005335, MeSH:D015179, MedGen:C0009404|MONDO:MONDO:0009026, MedGen:C0587248, OMIM:218040, Orphanet:3071|Human Phenotype Ontology:HP:0010816, MONDO:MONDO:0008093, MedGen:C0334082, OMIM:162900, Orphanet:79414|MONDO:MONDO:0008566, MedGen:C4225426, OMIM:188470|MONDO:MONDO:0001187, MedGen:C0005684, OMIM:109800, Orphanet:157980|Human Phenotype Ontology:HP:0010817, MONDO:MONDO:0008097, MedGen:C4552097, OMIM:163200, Orphanet:2612|Human Phenotype Ontology:HP:0005600, Human Phenotype Ontology:HP:0005604, MONDO:MONDO:0044792, MedGen:C1842036, OMIM:137550, Orphanet:626|MeSH:D030342, MedGen:C0950123|Human Phenotype Ontology:HP:0011459, MONDO:MONDO:0019086, MedGen:C0152018, Orphanet:70482|Human Phenotype Ontology:HP:0002859, MONDO:MONDO:0005212, MeSH:D012208, MedGen:C0035412, Orphanet:780|Human Phenotype Ontology:HP:0006725, MONDO:MONDO:0006047, MedGen:C0281361|Human Phenotype Ontology:HP:0010623, Human Phenotype Ontology:HP:0100013, MONDO:MONDO:0021100, MeSH:D001943, MedGen:C1458155|MONDO:MONDO:0018177, MeSH:D005909, MedGen:C0017636, Orphanet:360|MedGen:C3661900|MONDO:MONDO:0018881, MeSH:D009190, MedGen:C3463824, OMIM:614286, Orphanet:52688|Human Phenotype Ontology:HP:0001914, Human Phenotype Ontology:HP:0004808, Human Phenotype Ontology:HP:0004843, Human Phenotype Ontology:HP:0005516, Human Phenotype Ontology:HP:0006724, Human Phenotype Ontology:HP:0006728, MONDO:MONDO:0018874, MeSH:D015470, MedGen:C0023467, OMIM:601626, Orphanet:519|Human Phenotype Ontology:HP:0012056, MONDO:MONDO:0005012, MeSH:C562393, MedGen:C0151779|Human Phenotype Ontology:HP:0006775, MONDO:MONDO:0009693, MeSH:D009101, MedGen:C0026764, OMIM:254500, Orphanet:29073, Orphanet:85443|Human Phenotype Ontology:HP:0001402, Human Phenotype Ontology:HP:0002899, Human Phenotype Ontology:HP:0003007, Human Phenotype Ontology:HP:0006750, MONDO:MONDO:0007256, MedGen:C2239176, OMIM:114550, Orphanet:88673|Human Phenotype Ontology:HP:0030078, MONDO:MONDO:0005061, MeSH:D000077192, MedGen:C0152013|MONDO:MONDO:0010150, MeSH:D000077195, MedGen:C1168401, OMIM:275355, Orphanet:67037|Human Phenotype Ontology:HP:0006739, Human Phenotype Ontology:HP:0007614, MONDO:MONDO:0002529, MedGen:C0553723|Human Phenotype Ontology:HP:0006740, MONDO:MONDO:0005611, MedGen:C0279680 | ClinVar preferred disease name | Noonan syndrome and Noonan-related syndrome|Neoplasia of the nasopharynx|Ovarian serous cystadenocarcinoma|Gastric adenocarcinoma|Uterine carcinosarcoma|Papillary renal cell carcinoma, sporadic|Neoplasm of uterine cervix|Adenoid cystic carcinoma|Prostate adenocarcinoma|Malignant neoplasm of body of uterus|Thyroid tumor|Neoplasm of the large intestine|Costello syndrome|Epidermal nevus|Thyroid cancer, nonmedullary, 2|Malignant tumor of urinary bladder|Linear nevus sebaceous syndrome|Large congenital melanocytic nevus|Inborn genetic diseases|Esophageal carcinoma|Rhabdomyosarcoma|Pancreatic adenocarcinoma|Breast neoplasm|Glioblastoma|not provided|Myelodysplastic syndrome|Acute myeloid leukemia|Malignant melanoma of skin|Multiple myeloma|Hepatocellular carcinoma|Lung adenocarcinoma|Squamous cell carcinoma of the head and neck|Squamous cell carcinoma of the skin|Transitional cell carcinoma of the bladder | HGVS variant names | NC 000011.9:g.534288C>G | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Pathogenic | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA256486|OMIM:190020.0004|UniProtKB:P01112#VAR 026106 | Gene symbol:Gene id. | HRAS:3265|LRRC56:115399 | Molecular consequence | SO:0001583|missense variant, SO:0001623|5 prime UTR variant | Allele origin | | dbSNP ID | 104894230 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000013446; RCV000029210; RCV000038460; RCV000149830; RCV000212496; RCV000429375; RCV001255681; RCV001375956; RCV001813189; | Chromosome | 11:534288..534288 | ClinVar Allele ID | 27651 | Disease database name and identifier | MONDO:MONDO:0020297, MedGen:C5681679, Orphanet:98733|MONDO:MONDO:0023644, MedGen:C0220641|Human Phenotype Ontology:HP:0010623, Human Phenotype Ontology:HP:0100013, MONDO:MONDO:0021100, MeSH:D001943, MedGen:C1458155|MedGen:C3661900|MONDO:MONDO:0021060, MedGen:C5555857, Orphanet:536391|Human Phenotype Ontology:HP:0001790, MONDO:MONDO:0009369, MedGen:C0455988, OMIM:236750, Orphanet:363999|Human Phenotype Ontology:HP:0010815, MedGen:C3854181|MONDO:MONDO:0009026, MedGen:C0587248, OMIM:218040, Orphanet:3071|MedGen:C4016398 | ClinVar preferred disease name | Noonan syndrome and Noonan-related syndrome|Lip and oral cavity carcinoma|Breast neoplasm|not provided|RASopathy|Non-immune hydrops fetalis|Nevus sebaceous|Costello syndrome|Costello syndrome, severe | HGVS variant names | NC 000011.9:g.534288C>T | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Pathogenic/Likely pathogenic | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA122555|OMIM:190020.0013|UniProtKB:P01112#VAR 068816 | Gene symbol:Gene id. | HRAS:3265|LRRC56:115399 | Molecular consequence | SO:0001583|missense variant, SO:0001623|5 prime UTR variant | Allele origin | | dbSNP ID | 104894230 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
MSeqDR View Variant at Gbrowse Mitomap Mitochondrial Variant Phenotype Information:
None Ensembl Variant Phenotype Information:
None
|